Analysis of Putative Epigenetic Regulatory Elements in the Genomic Locus.

Int J Mol Sci

Departamento Biología Molecular and Centro de Biología Molecular "Severo Ochoa" (UAM-CSIC), Universidad Autónoma de Madrid, 28049 Madrid, Spain.

Published: May 2020

Friedreich´s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene ). The molecular mechanisms associated with FRDA are still poorly understood and most studies on gene regulation have been focused on the region around the minimal promoter and the region in which triplet expansion occurs. Nevertheless, since there could be more epigenetic changes involved in the reduced levels of transcripts, the aim of this study was to obtain a more detailed view of the possible regulatory elements by analyzing data from ENCODE and Roadmap consortia databases. This bioinformatic analysis indicated new putative regulatory regions within the genomic locus, including exons, introns, and upstream and downstream regions. Moreover, the region next to the end of intron 4 is of special interest, since the enhancer signals in FRDA-affected tissues are weak or absent in this region, whilst they are strong in the rest of the analyzed tissues. Therefore, these results suggest that there could be a direct relationship between the absence of enhancer sequences in this specific region and their predisposition to be affected in this pathology.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279236PMC
http://dx.doi.org/10.3390/ijms21103410DOI Listing

Publication Analysis

Top Keywords

regulatory elements
8
genomic locus
8
region
5
analysis putative
4
putative epigenetic
4
epigenetic regulatory
4
elements genomic
4
locus friedreich´s
4
friedreich´s ataxia
4
ataxia frda
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!